Search Results - "Mengel, E"

Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease by Boentert, M., Karabul, N., Wenninger, S., Stubbe-Dräger, B., Mengel, E., Schoser, B., Young, P.

“…Background and purpose Respiratory muscle weakness is the major cause of early death in patients with adult Pompe disease. It first manifests as nocturnal…”
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa by Hughes, D, Giugliani, R, Guffon, N, Jones, S A, Mengel, K E, Parini, R, Matousek, R, Hawley, S M, Quartel, A

“…This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with…”
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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease by Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

“…Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a…”
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Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial by Strothotte, S., Strigl-Pill, N., Grunert, B., Kornblum, C., Eger, K., Wessig, C., Deschauer, M., Breunig, F., Glocker, F. X., Vielhaber, S., Brejova, A., Hilz, M., Reiners, K., Müller-Felber, W., Mengel, E., Spranger, M., Schoser, Benedikt

“…Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid α-glucosidase…”
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients by van Capelle, C I, van der Meijden, J C, van den Hout, J M P, Jaeken, J, Baethmann, M, Voit, T, Kroos, M A, Derks, T G J, Rubio-Gozalbo, M E, Willemsen, M A, Lachmann, R H, Mengel, E, Michelakakis, H, de Jongste, J C, Reuser, A J J, van der Ploeg, A T

“…As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical…”
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The associations between the changes in serum inflammatory markers and bone mineral accrual in boys with overweight and obesity during pubertal maturation: a 3-year longitudinal study in Estonian boys by Mengel, E., Tillmann, V., Remmel, L., Kool, P., Purge, P., Lätt, E., Jürimäe, J.

“…Summary Adipose tissue produces different inflammatory cytokines which compromise bone mineral accrual during puberty. Vascular endothelial growth factor…”
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Management of neuronopathic Gaucher disease: Revised recommendations by Vellodi, A, Tylki-Szymanska, A, Davies, E. H, Kolodny, E, Bembi, B, Collin-Histed, T, Mengel, E, Erikson, A, Schiffmann, R

“…The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role…”
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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study by Pineda, M., Wraith, J.E., Mengel, E., Sedel, F., Hwu, W.-L., Rohrbach, M., Bembi, B., Walterfang, M., Korenke, G.C., Marquardt, T., Luzy, C., Giorgino, R., Patterson, M.C.

“…Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder…”
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The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy by Whybra, C, Kampmann, C, Krummenauer, F, Ries, M, Mengel, E, Miebach, E, Baehner, F, Kim, K, Bajbouj, M, Schwarting, A, Gal, A, Beck, M

“…Anderson–Fabry disease (AFD) is an X‐linked disorder caused by deficient activity of the lysosomal enzyme α‐galactosidase A. The availability of enzyme…”
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

“…Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at…”
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Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging by Laudemann, K., Moos, L., Mengel, E., Lollert, A., Hoffmann, C., Brixius-Huth, M., Wagner, D., Düber, C., Staatz, G.

“…This was a retrospective data analysis to evaluate the treatment response to enzyme replacement therapy (ERT) with Velaglucerase alfa using whole-body magnetic…”
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PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL by Villarrubia, J., Wasserstein, M., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Hennermann, J. B., Hollak, C., Ikezoe, T., Lachmann, R., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Thurberg, B. L., Yarramaneni, A., Rawlings, A. M., Kim, Y., Kumar, M.

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Sleep quality and sleep-related symptoms in Pompe disease by Boentert, M, Karabul, N, Wenninger, S, Schoser, B, Mengel, E, Young, P

“…Introduction Late-onset Pompe disease (LOPD) is highly representative for neuromuscular disorders with progressive respiratory muscle dysfunction. Non-invasive…”
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743 Lysosomal Storage Disorders in Non-Immunological Hydrops Fetalis - More Common than Assumed? by Whybra, C, Mengel, E, Bahlmann, F, Kampmann, C, Beck, M, Mildenberger, E

“…Background Although non immunological hydrops fetalis (NIHF) is a very rare disorder, the disturbance accounts for a disproportionate share (3%) of overall…”
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Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results) by Hiwot, T, Barohn, R, Bratkovic, D, Byrne, B, Desnuelle, C, Hughes, D, Laforêt, P, Mengel, E, Roberts, M, Yang, K, Heusner, C, Dummer, W

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An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease by Schoser, B, Byrne, B, Eyskens, F, Hiwot, T, Hughes, D, Kissel, J, Mengel, E, Mozaffar, T, Pestronk, A, Roberts, M, Sivakumar, K, Statland, J, Young, P, Heusner, C, Dummer, W

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P1211 : Efficacy and safety of sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Results of a phase 3 trial by Rojas-Caro, S, Baric, I, Camarena Grande, C, Coker, M, Deegan, P, DiRocco, M, Ezgu, F.S, Feillet, F, Malinova, V, Mengel, E, Murphy, E, Pastor Rosado, J, Rahman, Y, Scarpa, M, Schwab, K.O, Smolka, V, Taybert, J, Valayannopoulos, V, Yang, Y, Quinn, A

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Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases by Davies, E. H, Erikson, A, Collin-Histed, T, Mengel, E, Tylki-Szymanska, A, Vellodi, A

“…The European Task Force for Neuronopathic Gaucher Disease (NGD) met in 2006 to review its 2001 guidelines. Fifty-five patients from five European countries…”
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Childhood Pompe disease: Clinical spectrum and genotype in 31 children by van Spronsen, F, Jaeken, J, Rubio-Gozalbo, M, van der Meijden, J, Willemsen, M, Baethmann, M, Lachmann, R, van Capelle, C, Mengel, E, Voit, T, Michelakakis, H, van der Hout, J, Reuser, A, Kroos, M, van der Ploeg, A

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Diagnosis and therapy of late onset Pompe disease by Schüller, A, Kornblum, C, Deschauer, M, Vorgerd, M, Schrank, B, Mengel, E, Lukacs, Z, Gläser, D, Young, P, Plöckinger, U, Schoser, B

“…As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and…”
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